Variant report

Variant	rs3812477
Chromosome Location	chr8:1734452-1734453
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1727131..1730202-chr8:1731838..1734952,3	K562	blood:
2	chr8:1710662..1713548-chr8:1734331..1736456,2	MCF-7	breast:
3	chr8:1730297..1733181-chr8:1733346..1737804,5	K562	blood:
4	chr8:1732905..1734705-chr8:1740621..1742810,2	K562	blood:
5	chr8:1690830..1693396-chr8:1731671..1734648,2	K562	blood:
6	chr8:1734427..1736636-chr8:1737511..1739234,2	K562	blood:
7	chr8:1728494..1731142-chr8:1732363..1735530,3	MCF-7	breast:
8	chr8:1712944..1715681-chr8:1734053..1736692,2	K562	blood:

Variant related genes	Relation type
ENSG00000182372	Chromatin interaction
ENSG00000253982	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10087654	0.84[ASN][1000 genomes]
rs10089222	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10097891	0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10100341	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10102731	0.84[ASN][1000 genomes]
rs10105317	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs10106153	0.82[ASN][1000 genomes]
rs10481354	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11136421	0.94[JPT][hapmap]
rs11136424	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1137514	0.80[AMR][1000 genomes]
rs11778824	0.87[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs13256424	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13540	0.83[ASN][1000 genomes]
rs2293977	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs28376731	0.81[ASN][1000 genomes]
rs2957085	0.94[JPT][hapmap]
rs4242538	0.94[JPT][hapmap]
rs4242539	0.95[JPT][hapmap]
rs4370560	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4372027	0.84[ASN][1000 genomes]
rs4595147	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4639549	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4875806	0.91[ASN][1000 genomes]
rs4875957	0.91[ASN][1000 genomes]
rs4875958	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4875960	0.83[ASN][1000 genomes]
rs6558520	0.81[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs6558521	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6558522	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6558523	0.81[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs6558524	0.82[ASN][1000 genomes]
rs6558525	0.82[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6558527	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs6558531	0.84[ASN][1000 genomes]
rs6558532	0.83[ASN][1000 genomes]
rs6558533	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6558534	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6558535	0.84[ASN][1000 genomes]
rs6558537	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6558538	0.92[ASN][1000 genomes]
rs6981804	0.82[ASN][1000 genomes]
rs6982516	0.91[ASN][1000 genomes]
rs6986102	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6991773	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991783	0.89[ASN][1000 genomes]
rs6993706	0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7000162	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7001282	0.82[ASN][1000 genomes]
rs7005592	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7005699	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7008465	0.87[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs7010616	0.91[ASN][1000 genomes]
rs7013835	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7013841	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7014327	0.94[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014823	0.89[ASN][1000 genomes]
rs7015858	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs71499040	0.84[ASN][1000 genomes]
rs730377	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs730379	0.84[ASN][1000 genomes]
rs7341635	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7460287	0.80[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7460365	0.81[ASN][1000 genomes]
rs7460972	0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs7461159	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7461600	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7463876	0.84[ASN][1000 genomes]
rs7463879	0.82[ASN][1000 genomes]
rs7465178	0.88[ASN][1000 genomes]
rs7818406	0.80[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7822816	0.82[ASN][1000 genomes]
rs7827009	0.87[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7827285	0.87[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7828950	0.84[ASN][1000 genomes]
rs7838456	0.84[ASN][1000 genomes]
rs7842425	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7844748	0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7845723	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs7846610	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9022	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1034490	chr8:1654716-1782467	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
11	nsv609527	chr8:1681733-1753497	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv870096	chr8:1682851-1767342	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
13	nsv532892	chr8:1687433-1839578	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv2755149	chr8:1689290-1755281	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
15	nsv465275	chr8:1697086-1768004	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv609529	chr8:1697086-1768004	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
17	nsv465276	chr8:1701432-1777571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv609530	chr8:1701432-1777571	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
19	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv932825	chr8:1719042-1736355	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3401554	chr8:1732570-1735418	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs3812477	CTD-2336O2.1	cis	lung	GTEx
rs3812477	CTD-2336O2.1	cis	Thyroid	GTEx
rs3812477	CTD-2336O2.1	cis	Nerve Tibial	GTEx
rs3812477	CTD-2336O2.1	cis	Adipose Subcutaneous	GTEx
rs3812477	CTD-2336O2.1	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1713400-1735800	Weak transcription	Fetal Brain Male	brain
2	chr8:1718000-1736000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:1728000-1735200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:1728000-1736000	Weak transcription	Psoas Muscle	Psoas
5	chr8:1728200-1735400	Weak transcription	Small Intestine	intestine
6	chr8:1728200-1735600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:1729000-1735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:1729400-1734800	Weak transcription	Fetal Kidney	kidney
9	chr8:1729800-1735000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:1730000-1734800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:1730000-1735000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:1730000-1735000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:1730000-1735600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:1730200-1735400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:1731000-1736200	Weak transcription	GM12878-XiMat	blood
16	chr8:1731400-1735800	Weak transcription	Fetal Thymus	thymus
17	chr8:1731600-1735000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:1731600-1736000	Weak transcription	Primary B cells from cord blood	blood
19	chr8:1731600-1736600	Weak transcription	Aorta	Aorta
20	chr8:1731800-1735400	Weak transcription	Brain Angular Gyrus	brain
21	chr8:1731800-1735600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:1731800-1736000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:1731800-1736000	Weak transcription	Dnd41	blood
24	chr8:1732000-1735200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:1732000-1735600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:1732000-1735800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:1732000-1735800	Weak transcription	Pancreas	Pancrea
28	chr8:1732000-1735800	Weak transcription	Thymus	Thymus
29	chr8:1732000-1736000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:1732000-1736200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:1732000-1737800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:1732000-1739000	Weak transcription	Fetal Brain Female	brain
33	chr8:1732200-1734800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:1732200-1735600	Weak transcription	Primary T cells from cord blood	blood
35	chr8:1732200-1736000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr8:1732200-1736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:1732600-1734600	Enhancers	Right Ventricle	heart
38	chr8:1732600-1737200	Enhancers	Left Ventricle	heart
39	chr8:1732800-1734600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:1732800-1735400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr8:1732800-1736000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:1732800-1736000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:1732800-1736400	Enhancers	Lung	lung
44	chr8:1732800-1736400	Enhancers	Right Atrium	heart
45	chr8:1732800-1737800	Enhancers	Fetal Muscle Leg	muscle
46	chr8:1732800-1738600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:1733000-1734800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:1733000-1735200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:1733000-1736000	Weak transcription	Fetal Intestine Small	intestine
50	chr8:1733000-1737000	Enhancers	Skeletal Muscle Male	skeletal muscle

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